Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R132*

RNF43

722 papers

RefSeq Summary

The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This...

Pfam Domains

ZNRF_3_ectoaa 85–189UCSCZNRF-3 Ectodomain
zf-RING_2aa 270–313UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 43

HGNC Alias Symbols

FLJ20315; RNF124; DKFZp781H0392; URCC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
34 papers
NM_017763.6
p.R132*
c.394C>T
Surrounding Variants
2 papers
NM_017763.6
p.R132G
c.394C>G
1 paper
NM_017763.6
p.G130_E131delFs
c.389_393del5
2 papers
NM_017763.6
p.R132L
c.395G>T
1 paper
NM_017763.6
p.R132Q
c.395G>A
1 paper
NM_017763.6
p.G133R
c.397G>C
1 paper
NM_017763.6
p.G133R
c.397G>A
1 paper
NM_017763.6
p.G133insFs
c.398_399insA
1 paper
NM_017763.6
p.G133E
c.398G>A
1 paper
NM_017763.6
p.G130fs
c.388_389fs
1 paper
NM_017763.6
p.G130S
c.388G>A
1 paper
NM_017763.6
p.A134A
c.402C>G
1 paper
NM_017763.6
p.A134fs
c.400_401fs
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